Multiple choice

A 3 year old girl with developmental delay is seen for evaluation. He has microcephaly, and his parents note that his birth weight was low. There is no known family history of similar problems. As routine karyotype is normal. His parents ask if there are additional cytogenetic tests that can be offered. What would you counsel them?

  1. A normal karyotype rules out all detectable chromosomal abnormalities.

  2. The girl should have FISH analysis for all known microdeletions.

  3. The chromosome study should be repeated in another laboratory.

  4. Analysis for subtelomere deletion may detect an abnormality missed by convential chromosomal analysis.
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Subtelomere analysis offers a possibility to detect an abnormality that was not seen by conventional cytogenetic analysis.

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